Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. 29176636

2018

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening. 23397983

2014

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR A guide for functional analysis of BRCA1 variants of uncertain significance. 22753008

2012

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry. 22739995

2012

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. 18783588

2008

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001

dbSNP: rs55851803
rs55851803
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. 11106241

2000